CXCR6, C-X-C motif chemokine receptor 6, 10663

N. diseases: 325; N. variants: 2
Disease: Nephrogenic Syndrome of Inappropriate Antidiuresis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845202
Disease: Nephrogenic Syndrome of Inappropriate Antidiuresis
Nephrogenic Syndrome of Inappropriate Antidiuresis 		0.010 GeneticVariation disease BEFREE Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a recently identified chromosome X-linked disease associated with gain-of-function mutations of the V2 vasopressin receptor (V2R), a G-protein-coupled receptor. 31486901 2019